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Biomarkers in rare disorders: the experience with spinal muscular atrophy
2011 Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study
2013 Resta, N; Pierannunzio, D; Lenato, Gm; Stella, A; Capocaccia, R; Bagnulo, R; Lastella, P; Susca, Fc; Bozzao, C; Loconte, Dc; Sabbà, C; Urso, E; Sala, P; Fornasarig, M; Grammatico, P; Piepoli, A; Host, C; Turchetti, D; Viel, A; Memo, L; Giunti, L; Stigliano, V; Varesco, L; Bertario, L; Genuardi, Maurizio; Lucci Cordisco, Emanuela; Tibiletti, Mg; Di Gregorio, C; Andriulli, A; Ponz De Leon, M.
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study
2013 Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study Running title: adult SMA biomarker study
2012 Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy
2018 De Sanctis, Roberto; Pane, Marika; Coratti, Giorgia; Palermo, Concetta; Leone, Daniela; Pera, Maria Carmela; Abiusi, Emanuela; Fiori, Stefania; Forcina, Nicola; Fanelli, Lavinia; Lucibello, Simona; Mazzone, Elena S.; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
2015 Gurrieri, Fiorella; Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; Tiziano, Francesco Danilo; Nicole, ; Nevsimalova, S; Neville, B; Van Den Maagdenberg, Am; Mikati, M; Goldstein, D.
Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma
2020 Maturo, M. G.; Rachakonda, S.; Heidenreich, B.; Pellegrini, C.; Srinivas, N.; Requena, C.; Serra-Guillen, C.; Llombart, B.; Sanmartin, O.; Guillen, C.; Di Nardo, Lucia; Peris, Ketty; Fargnoli, Maria Concetta; Nagore, E.; Kumar, R.
Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders
2014 Lattante, Serena; Millecamps, S; Stevanin, G; Rivaud Péchoux, S; Moigneu, C; Camuzat, A; Da Barroca, S; Mundwiller, E; Couarch, P; Salachas, F; Hannequin, D; Meininger, V; Pasquier, F; Seilhean, D; Couratier, P; Danel Brunaud, V; Bonnet, A; Tranchant, C; Leguern, E; Brice, A; Le Ber, I; Kabashi, E.
Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions
2014 Lattante, Serena; Le Ber, I; Galimberti, D; Serpente, M; Rivaud Péchoux, S; Camuzat, A; Clot, F; Fenoglio, C; Scarpini, E; Brice, A; Kabashi, E.
Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy
2001 Cifuentes Diaz, C; Frugier, T; Tiziano, Francesco Danilo; Lacene, E; Roblot, N; Joshi, V; Moreau, M; Melki, J.
Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family
1996 Zappata, S; Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate
Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients
1999 Vitali, Tiziana; Sossi, V; Tiziano, Francesco Danilo; Zappata, S; Giuli, A; Paravatou Petsotas, M; Neri, Giovanni; Brahe, Cristina Beate
DNA fingerprinting secondary transfer from different skin areas: Morphological and genetic studies
2014 Zoppis, S; Muciaccia, B; D'Alessio, Alessio; Ziparo, E; Vecchiotti, C; Filippini, A.
Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS
2014 Silvestri, Gabriella; Masciullo, Marcella; Modoni, Anna; Bianchi, Maria Laura Ester; Santorelli, Filippo
Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia
2003 Lastella, Patrizia; Sabba', Carlo; Lenato, Gennaro Maria; Resta, Nicoletta; Lattanzi, Wanda; Gallitelli, Mauro; Cirulli, Annalisa; Guanti, Ginevra
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
2015 Van Der Velde, Kj; Kuiper, J; Thompson, Ba; Plazzer, Jp; Van Valkenhoef, G; De Haan, M; Jongbloed, Jd; Wijmenga, C; De Koning, Tj; Abbott, Km; Sinke, R; Spurdle, Ab; Macrae, F; Genuardi, Maurizio; Sijmons, Rh; Swertz, Ma
Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study
2012 Crawford, To; Paushkin, Sv; Kobayashi, Dt; Forrest, Sj; Joyce, Cl; Finkel, Rs; Kaufmann, P; Swoboda, Kj; Tiziano, Francesco Danilo; Lomastro, Rosa; Li, Rh; Trachtenberg, Fl; Plasterer, T; Chen, Ks
Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I
1996 Brahe, Cristina Beate; Clermont, O; Zappata, S; Tiziano, Francesco Danilo; Melki, J; Neri, Giovanni
Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes.
2018 Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, R.
Gene targeting restricted to mouse striated muscle lineage.
1999 Miniou, P; Tiziano, Francesco Danilo; Frugier, T; Roblot, N; Le, Meur; M, Melki
Data di pubblicazione | Titolo | Autore(i) | File |
---|---|---|---|
1-gen-2011 | Biomarkers in rare disorders: the experience with spinal muscular atrophy | Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate | |
1-gen-2013 | Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study | Resta, N; Pierannunzio, D; Lenato, Gm; Stella, A; Capocaccia, R; Bagnulo, R; Lastella, P; Susca, Fc; Bozzao, C; Loconte, Dc; Sabbà, C; Urso, E; Sala, P; Fornasarig, M; Grammatico, P; Piepoli, A; Host, C; Turchetti, D; Viel, A; Memo, L; Giunti, L; Stigliano, V; Varesco, L; Bertario, L; Genuardi, Maurizio; Lucci Cordisco, Emanuela; Tibiletti, Mg; Di Gregorio, C; Andriulli, A; Ponz De Leon, M. | |
1-gen-2013 | Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: Clues from a biomarker study | Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia | |
1-gen-2012 | Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study Running title: adult SMA biomarker study | Tiziano, Francesco Danilo; Lomastro, Rosa; Di Pietro, Lorena; Pasanisi, Maria Barbara; Fiori, Stefania; Angelozzi, Carla; Abiusi, Emanuela; Angelini, Corrado; Sorarù, Gianni; Gaiani, Alessandra; Mongini, Tiziana; Vercelli, Liliana; Vasco, Gessica; Vita, Giuseppe; Vita, Gian Luca; Messina, Sonia; Politano, Luisa; Passamano, Luigia; Di Gregorio, Grazia; Montomoli, Cristina; Orsi, Chiara; Campanella, Angela; Mantegazza, Renato; Morandi, Lucia | |
1-gen-2018 | Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy | De Sanctis, Roberto; Pane, Marika; Coratti, Giorgia; Palermo, Concetta; Leone, Daniela; Pera, Maria Carmela; Abiusi, Emanuela; Fiori, Stefania; Forcina, Nicola; Fanelli, Lavinia; Lucibello, Simona; Mazzone, Elena S.; Tiziano, Francesco Danilo; Mercuri, Eugenio Maria | |
1-gen-2015 | Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. | Gurrieri, Fiorella; Panagiotakaki, E; De Grandis, E; Stagnaro, M; Heinzen, El; Fons, C; Sisodiya, S; Tiziano, Francesco Danilo; Nicole, ; Nevsimalova, S; Neville, B; Van Den Maagdenberg, Am; Mikati, M; Goldstein, D. | |
1-gen-2020 | Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma | Maturo, M. G.; Rachakonda, S.; Heidenreich, B.; Pellegrini, C.; Srinivas, N.; Requena, C.; Serra-Guillen, C.; Llombart, B.; Sanmartin, O.; Guillen, C.; Di Nardo, Lucia; Peris, Ketty; Fargnoli, Maria Concetta; Nagore, E.; Kumar, R. | |
1-gen-2014 | Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders | Lattante, Serena; Millecamps, S; Stevanin, G; Rivaud Péchoux, S; Moigneu, C; Camuzat, A; Da Barroca, S; Mundwiller, E; Couarch, P; Salachas, F; Hannequin, D; Meininger, V; Pasquier, F; Seilhean, D; Couratier, P; Danel Brunaud, V; Bonnet, A; Tranchant, C; Leguern, E; Brice, A; Le Ber, I; Kabashi, E. | |
1-gen-2014 | Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions | Lattante, Serena; Le Ber, I; Galimberti, D; Serpente, M; Rivaud Péchoux, S; Camuzat, A; Clot, F; Fenoglio, C; Scarpini, E; Brice, A; Kabashi, E. | |
1-gen-2001 | Deletion of murine smn exon 7 directed to skeletal muscle leads to severe muscular dystrophy | Cifuentes Diaz, C; Frugier, T; Tiziano, Francesco Danilo; Lacene, E; Roblot, N; Joshi, V; Moreau, M; Melki, J. | |
1-gen-1996 | Deletions in the SMN gene in infantile and adult spinal muscular atrophy patients from the same family | Zappata, S; Tiziano, Francesco Danilo; Neri, Giovanni; Brahe, Cristina Beate | |
1-gen-1999 | Detection of the survival motor neuron (SMN) genes by FISH: Further evidence for a role for SMN2 in the modulation of disease severity in SMA patients | Vitali, Tiziana; Sossi, V; Tiziano, Francesco Danilo; Zappata, S; Giuli, A; Paravatou Petsotas, M; Neri, Giovanni; Brahe, Cristina Beate | |
1-gen-2014 | DNA fingerprinting secondary transfer from different skin areas: Morphological and genetic studies | Zoppis, S; Muciaccia, B; D'Alessio, Alessio; Ziparo, E; Vecchiotti, C; Filippini, A. | |
1-gen-2014 | Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS | Silvestri, Gabriella; Masciullo, Marcella; Modoni, Anna; Bianchi, Maria Laura Ester; Santorelli, Filippo | |
1-gen-2003 | Endoglin gene mutations and polymorphisms in Italian patients with hereditary haemorrhagic telangiectasia | Lastella, Patrizia; Sabba', Carlo; Lenato, Gennaro Maria; Resta, Nicoletta; Lattanzi, Wanda; Gallitelli, Mauro; Cirulli, Annalisa; Guanti, Ginevra | |
1-gen-2015 | Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization. | Van Der Velde, Kj; Kuiper, J; Thompson, Ba; Plazzer, Jp; Van Valkenhoef, G; De Haan, M; Jongbloed, Jd; Wijmenga, C; De Koning, Tj; Abbott, Km; Sinke, R; Spurdle, Ab; Macrae, F; Genuardi, Maurizio; Sijmons, Rh; Swertz, Ma | |
1-gen-2012 | Evaluation of SMN Protein, Transcript, and Copy Number in the Biomarkers for Spinal Muscular Atrophy (BforSMA) Clinical Study | Crawford, To; Paushkin, Sv; Kobayashi, Dt; Forrest, Sj; Joyce, Cl; Finkel, Rs; Kaufmann, P; Swoboda, Kj; Tiziano, Francesco Danilo; Lomastro, Rosa; Li, Rh; Trachtenberg, Fl; Plasterer, T; Chen, Ks | |
1-gen-1996 | Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I | Brahe, Cristina Beate; Clermont, O; Zappata, S; Tiziano, Francesco Danilo; Melki, J; Neri, Giovanni | |
1-gen-2018 | Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. | Ravegnini, G; Quero, Giuseppe; Sammarini, G; Giustiniani, Maria Cristina; Castri, Federica; Pomponi, Maria Grazia; Angelini, S; Alfieri, Sergio; Genuardi, Maurizio; Zamboni, G; Ricci, R. | |
1-gen-1999 | Gene targeting restricted to mouse striated muscle lineage. | Miniou, P; Tiziano, Francesco Danilo; Frugier, T; Roblot, N; Le, Meur; M, Melki |
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